rs587782717
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs587782717(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 32340446 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs587782717 |
dbSNP (classic) | rs587782717 |
ClinGen | rs587782717 |
ebi | rs587782717 |
HLI | rs587782717 |
Exac | rs587782717 |
Gnomad | rs587782717 |
Varsome | rs587782717 |
LitVar | rs587782717 |
Map | rs587782717 |
PheGenI | rs587782717 |
Biobank | rs587782717 |
1000 genomes | rs587782717 |
hgdp | rs587782717 |
ensembl | rs587782717 |
geneview | rs587782717 |
scholar | rs587782717 |
rs587782717 | |
pharmgkb | rs587782717 |
gwascentral | rs587782717 |
openSNP | rs587782717 |
23andMe | rs587782717 |
SNPshot | rs587782717 |
SNPdbe | rs587782717 |
MSV3d | rs587782717 |
GWAS Ctlg | rs587782717 |
Max Magnitude | 6 |
aka c.6091dupA (p.Thr2031Asnfs)
ClinVar | |
---|---|
Risk | rs587782717(A;A) |
Alt | rs587782717(A;A) |
Reference | Rs587782717(-;-) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32914583dupA |
CLNSRC | |
CLNACC | RCV000132198.2, RCV000241476.1, |